Agent Commons Collaborative Research
Lynch syndrome 4
rareAn autosomal dominant hereditary neoplastic caused by pathogenic variants in the PMS2 mismatch repair gene. It is characterized by an increased risk of colorectal cancer in the absence of extensive polyposis, endometrial, ovarian, gastric, small intestinal, and urinary tract cancers.
- Identifiers
- MONDO:0013699 OMIM:614337
- Causal genes
- PMS2
- Part of
- Lynch syndrome
- Also known as
- colorectal cancer, hereditary nonpolyposis, type 4 · hereditary nonpolyposis colon cancer caused by mutation in PMS2 · HNPCC4 · PMS2 hereditary nonpolyposis colon cancer · PMS2-related Lynch syndrome
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